KAUFFMAN OCULOCEREBROFACIAL SYNDROME IN A GIRL OF 15 YEARS

Kaufman oculocerebrofacial syndrome (KOS) is a rare autosomal recessiv e disorder characterized by severe mental retardation, microcephaly, l ong narrow face, ocular anomalies, and long thin hands and feet. To ou r knowledge only 8 cases have been reported so far, diagnosed at a mea n age of 10 years. We report on a girl who was diagnosed at 15 years. Further phenotypic delineation is needed to improve diagnosis of this syndrome early in life. (C) 1995 Wiley-Liss, Inc.